Linked Data
MyVariant Identifiers:
chrX:g.37663237G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37803984G>A , CM000685.2:g.37803984G>A | GRCh38 |
| NC_000023.10:g.37663237G>A , CM000685.1:g.37663237G>A | GRCh37 |
| NC_000023.9:g.37548181G>A | NCBI36 |
| NG_009065.1:g.28968G>A , LRG_53:g.28968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*514G>A | ENSP00000512461.1:n.*514G>A | |
| ENST00000696171.1:c.909G>A | ENSP00000512462.1:p.Leu303= | |
| ENST00000378588.5:c.1005G>A MANE Select | ENSP00000367851.4:p.Leu335= | |
| ENST00000378588.4:c.1005G>A | ENSP00000367851.4:p.Leu335= | |
| ENST00000465127.1:c.171+377984G>A | ENSP00000417050.1:n.171+377984G>A | |
| ENST00000492288.1:n.430G>A | ||
| NM_000397.3:c.1005G>A , LRG_53t1:c.1005G>A | NP_000388.2:p.Leu335= | |
| XM_011543890.1:c.699G>A | XP_011542192.1:p.Leu233= | |
| NM_000397.4:c.1005G>A MANE Select | NP_000388.2:p.Leu335= |